Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

por Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S., Ayuso, Carmen, Cremers, Frans P. M., Roosing, Susanne, The ABCA4 study group
Publicado 2019

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

por Khan, Mubeen, S. Cornelis, Stéphanie, Sangermano, Riccardo, J.M. Post, Iris, Janssen Groesbeek, Amber, Amsu, Jan, Gilissen, Christian, Garanto, Alejandro, W.J. Collin, Rob, P.M. Cremers, Frans
Publicado 2020

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

por Sangermano, Riccardo, Khan, Mubeen, Cornelis, Stéphanie S., Richelle, Valerie, Albert, Silvia, Garanto, Alejandro, Elmelik, Duaa, Qamar, Raheel, Lugtenberg, Dorien, van den Born, L. Ingeborgh, Collin, Rob W.J., Cremers, Frans P.M.
Publicado 2018

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

por Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah, Mishra, Ketan, Whelan, Laura, Cornelis, Stéphanie S., Hoyng, Carel B., Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Stöhr, Heidi, Weber, Bernhard H.F., Banfi, Sandro, Farrar, G. Jane, Sharon, Dror, Zernant, Jana, Allikmets, Rando, Dhaenens, Claire-Marie, Cremers, Frans P.M.
Publicado 2023

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

por Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.
Publicado 2019